Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of male external genitalia (HP:0000032)

Parent Node:
Abnormality of the scrotum (HP:0000045)

..Starting node
..Varicocele (HP:0012871)

Term ID:

12871

Name:

Varicocele

Synonym:

Vaginal varicocele

Definition:

A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum.

Comments:

Reference:

HP:0012871

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal scrotal rugation (HP:0012856)

Absent scrotum (HP:0008707)

Accessory scrotum (HP:0030274)

Bifid scrotum (HP:0000048)

Ectopic scrotum (HP:0030275)

Neoplasm of the scrotum (HP:0100849)

obsolete Small scrotum (HP:0030276)

Penoscrotal transposition (HP:0100600)

Prominent scrotal raphe (HP:0003246)

Scrotal hyperpigmentation (HP:0012855)

Scrotal pain (HP:0030155)

Shawl scrotum (HP:0000049)

Small scrotum (HP:0000046)

Vaginal hematocele (HP:0100674)

Vaginal hydrocele (HP:0100673)

Vaginal lymphocele (HP:0100676)

Vaginal pyocele (HP:0100675)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012871	HP:0012871	Varicocele	0	AKT1 CL E G H	207	391	OMIM:615109	Cowden syndrome 6	.	54
HP:0012871	HP:0012871	Varicocele	0	PTEN CL E G H	5728	9588	OMIM:158350	Cowden syndrome 1	.	948
HP:0012871	HP:0012871	Varicocele	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0012871	HP:0012871	Varicocele	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138

Genes (3) :AKT1 PTEN SRCAP

Diseases (4) :OMIM:615109 OMIM:158350 OMIM:136140 ORPHA:2044

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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